Bardet-Biedl Syndrome 12

TEST CODE MG10350
TEST NAME Bardet-Biedl Syndrome 12
RELATED GENE BBS12
SYNONYMOUS BBS12
OMIM 615989
HEREDITY Autosomal Recessive
CLINICAL AREA Bardet-Biedl Syndrome 12 is a disease inherited in an autosomal recessive manner. Mutations in the BBS12 gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA
QUANTITY 3 mL
TAT 40 DAYS

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